EP07.28: Routine screening for fetal limb abnormalities in the first trimester

We aimed to assess the performance of routine 2D first trimester (FT) ultrasound (US) in detecting fetal limb abnormalities in the Prenatal Diagnosis Unit of Obstetrics and Gynecology I of the Emergency University County Hospital. Limbs are routinely assessed in our unit during the first trimester (FT) and the second trimester (ST) anomaly scan. This is a retrospective single-centre 3-year study. Data were extracted from the patients' hard-copy and electronic files in the intranet network Hipocrat used by the Hospital. The US examinations were reviewed using the stored unit's external hard drives. Patient records on terminations of pregnancy (TOPs) and neonates' files were reviewed to validate the diagnoses. Detection of fetal limb abnormalities was verified at delivery or autopsy. We reanalysed fetuses from 3203 singleton pregnancies. The incidence of fetal limb abnormalities was 0.43% (14/3203). Of these, 13 (92.85%) were diagnosed prenatally: 8 (57.14%) at the FT scan and 5 (35.71%) at the ST scan. At the end of FT limb reduction, skeletal dysplasia, sirenomelia, ectrodactyly, and clubfoot were diagnosed or highly suspected. All fetuses with isolated limb abnormalities had a normal nuchal translucency thickness. A fair percentage of limb abnormalities may be detected early in pregnancy, even limb defects seen as minor or having an optimal correction. At this gestational age, operators should exercise caution, as the counselling may be deficient or incomplete. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.

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Publication Details

Journal
Ultrasound in Obstetrics and Gynecology
Published
2024-09-01
DOI
https://doi.org/10.1002/uog.28277
Primary Topic
Congenital limb and hand anomalies
Type
article
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article

EP07.28: Routine screening for fetal limb abnormalities in the first trimester

Ş. Tudorache, Mihaela Dinu, Andreea Florentina Stancioi-Cismaru, A. Comanescu et al.
Ultrasound in Obstetrics and Gynecology
Congenital limb and hand anomalies
article

EP07.28: Routine screening for fetal limb abnormalities in the first trimester

Ş. Tudorache, Mihaela Dinu, Andreea Florentina Stancioi-Cismaru, A. Comanescu, Florin-Alexandru Dita, Alexandra Popa, R. Robu, O. Tica
article en

Abstract

We aimed to assess the performance of routine 2D first trimester (FT) ultrasound (US) in detecting fetal limb abnormalities in the Prenatal Diagnosis Unit of Obstetrics and Gynecology I of the Emergency University County Hospital. Limbs are routinely assessed in our unit during the first trimester (FT) and the second trimester (ST) anomaly scan. This is a retrospective single-centre 3-year study. Data were extracted from the patients' hard-copy and electronic files in the intranet network Hipocrat used by the Hospital. The US examinations were reviewed using the stored unit's external hard drives. Patient records on terminations of pregnancy (TOPs) and neonates' files were reviewed to validate the diagnoses. Detection of fetal limb abnormalities was verified at delivery or autopsy. We reanalysed fetuses from 3203 singleton pregnancies. The incidence of fetal limb abnormalities was 0.43% (14/3203). Of these, 13 (92.85%) were diagnosed prenatally: 8 (57.14%) at the FT scan and 5 (35.71%) at the ST scan. At the end of FT limb reduction, skeletal dysplasia, sirenomelia, ectrodactyly, and clubfoot were diagnosed or highly suspected. All fetuses with isolated limb abnormalities had a normal nuchal translucency thickness. A fair percentage of limb abnormalities may be detected early in pregnancy, even limb defects seen as minor or having an optimal correction. At this gestational age, operators should exercise caution, as the counselling may be deficient or incomplete. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.

Ultrasound in Obstetrics and GynecologyVol. 64(S1)
University of Medicine and Pharmacy of Craiova (RO)
Zero hunger
Openalex Percentile: Top 87%
Congenital limb and hand anomalies
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